Genetic Profile and Associated Characteristics of 150 Korean Patients with Retinitis Pigmentosa

Table 3

Disease progression in patients with retinitis pigmentosa carrying variants of the four major causative genes.

Gene

Inheritance

No., n

Follow-up duration, years (range)

Change in BCVA

Shortening of EZ band, μm (range)

Change in EZ band

Deterioration of BCVA, logMAR (range)

Age at exam, years^a

Symptom duration, years^b

Age at exam, years^a

Symptom duration, years^b

Beta

P value^c

Beta

P value^c

Beta

P value^c

Beta

P value^c

EYS

AR

15

2.0 (1.0–20.0)

0.1 (−0.1−1.0)

0.01

0.0003

0.02

<0.0001

−555.0 (−1615.0−158.0)

−62.28

0.0002

−80.09

<0.0001

PDE6B

AR

10

1.5 (1.0–4.0)

0.0 (−0.2−0.2)

0.02

0.0342

0.04

<0.0001

−247.0 (−1239.0−135.0)

−54.26

0.0105

−58.60

0.0299

RP1

AD/AR∗

4/5∗

2.0 (2.0–8.0)

0.1 (0.0–0.2)

0.00

0.0851

0.01

0.0590

−35.0 (−1243.0—1.0)

−140.22

<0.0001

−141.80

<0.0001

USH2A

AR

12

2.0 (1.0–9.0)

0.0 (−0.1 − 0.5)

0.01

0.0002

0.02

0.0039

−676.2 (−1676.0 − 0.0)

−170.37

<0.0001

−182.76

<0.0001

Four major causative genes

41/42∗

2.0 (1.0–20.0)

0.0 (−0.2 − 1.0)

−421.5 (−2295.0 − 158.0)

Group-time interaction effect^d

0.0140

0.0006

0.0336

0.0050

BCVA, best-corrected visual acuity; EZ, ellipsoid zone; SD, standard deviation; LogMAR, logarithm of the minimum angle of resolution; AR, autosomal recessive; AD, autosomal dominant. ^aLinear growth curve model: y = beta·t (model without intercept). ^bLinear growth curve model: y = a + beta·t. ^c was considered significant. ^dP value for interaction between groups, was considered significant. ∗Only patients (five out of nine) with peripheral type RP1-associated RP were analyzed.